Varaico: Literature-Extracted Genetic Variants

SLC30A8

339 papers

RefSeq Summary

The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly ...

Pfam Domains

Cation_effluxaa 74–275UCSCCation efflux transmembrane domain

ZT_dimeraa 279–354UCSCCation efflux protein, cytoplasmic domain

Gene Aliases

HGNC Name

solute carrier family 30 member 8

HGNC Alias Symbols

ZnT-8; ZNT8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_173851.3

p.L146F

c.436C>T

Surrounding Variants

1 paper

NM_173851.3

p.L146R

c.437T>G

1 paper

NM_173851.3

p.I141N

c.422T>A

1 paper

NM_173851.3

p.I151V

c.451A>G

3 papers

NM_173851.3

p.E140Splc

c.419-1G>C

2 papers

NM_173851.3

p.W152R

c.454T>A

2 papers

NM_173851.3

p.W152R

c.454T>C

2 papers

NM_173851.3

p.W152*

c.455G>A

2 papers

NM_173851.3

p.W152*

c.456G>A

1 paper

NM_173851.3

p.C163C

c.489T>C

4 papers

NM_173851.3

p.R165C

c.493C>T

2 papers

NM_173851.3

p.R165H

c.494G>A

1 paper

NM_173851.3

p.L167M

c.499C>A